metaphyseal anadysplasia

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metaphyseal anadysplasia

An inherited condition (OMIM:613073) characterised by abnormal bone development (shortness of stature, rhizomelic micromelia and mild varus deformity) which, in contrast to most other skeletal dysplasias, resolves spontaneously with age.

Molecular pathology
Metaphyseal anadysplasia type 1 is caused by a defect in MMP13, which encodes matrix metalloproteinase 13; metaphyseal anadysplasia type 2 is caused by a defect in MMP9, which encodes matrix metalloproteinase 9.
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